Leyre Riancho-Zarrabeitiaemail and colleagues present a study on Low serum levels of alkaline phosphatase (ALP) that are a hallmark of hypophosphatasia. They performed a clinical, biochemical and genetic study of 42 individuals with unexplained low ALP levels to clarify the underlying genetics of low ALP. They showed that one-half of adult individuals with unexplained low serum ALP carried an ALPL mutation.
Riancho-Zarrabeitia, Leyre et al. European Journal of Internal Medicine.
"Alamut enables us to interrogate and manage our data with ease. It has an intuitive interface, which brings together a range of routinely used resources, saving a significant amount of time & ensuring a consistent approach to variant interrogation."
KATE THOMSON, FRCPath
Cardiac Service Oxford University Hospitals